Fragile X syndrome
Gene: FMR1_MLPA
NGS analysis - Hereditary endocrine tumors
Gene: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, EPCAM, FH, FLCN, GREM1, CHEK2, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TMEM127, TP53, TSC1, TSC2, VHL
NGS analysis - Hereditary colorectal carcinoma_Lynch syndrome_Polyposis
Gene: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, EPCAM, FH, FLCN, GREM1, CHEK2, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TMEM127, TP53, TSC1, TSC2, VHL
FISH analysis - Partial mole
Gene: t(X;Y)(p11.1-q11.1;p11.1-q11.1) X/Y
NGS analysis - Hereditary breast and ovarian cancer syndrome
Gene: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, EPCAM, FH, FLCN, GREM1, CHEK2, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TMEM127, TP53, TSC1, TSC2, VHL
FISH analysis - Partial mole
Gene: CEN17 (alpha satellites)
FISH analysis - Partial mole
Gene: X (Xp11.1-q11.1)
FISH analysis - Adenoid cystic carcinoma
Gene: MYB (6q23.3)
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Gene: MARVELD2 (IVS4+2T>C)
Beta-mannosidosis
Gene: MANBA (p.2158-2A>G)
